MSSD
MCID: SYN063
MIFTS: 27

Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction (MSSD)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction

MalaCards integrated aliases for Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction:

Name: Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction 58 76 41 74
Syndactyly Type 9 54 60 30 6
Mssd 58 54 60 76
Syndactyly, Malik-Percin Type 58 60 76
Syndactyly, Type Ix 58 76
Syndactyly Mesoaxial Synostotic with Phalangeal Reduction 54
Mesoaxial Synostotic Syndactyly with Phalangeal Reduction 60
Mesoaxial Synostotic Syndactyly, Malik-Percin Type 76
Syndactyly Malik-Percin Type 54

Characteristics:

Orphanet epidemiological data:

60
mesoaxial synostotic syndactyly with phalangeal reduction
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
feet are unaffected in some patients
some heterozygotes exhibit a mild phenotype of cutaneous syndactyly between the second and third toes


HPO:

33
syndactyly, mesoaxial synostotic, with phalangeal reduction:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 609432
MeSH 45 D013576
ICD10 via Orphanet 35 Q70.0 Q70.2
UMLS via Orphanet 75 C1836206
Orphanet 60 ORPHA157801
MedGen 43 C1836206
UMLS 74 C1836206

Summaries for Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 157801Disease definitionMesoaxial synostotic syndactyly (MSSD) with phalangeal reduction is a novel and distinct form of non-syndromic syndactyly including complete syndactyly of the 3rd and 4th fingers with synostoses of the corresponding metacarpals and associated single phalanges, syndactyly of the 2nd and 3rd toes and 5th finger clinodactyly.EpidemiologyIt has been described in two families.EtiologyThe locus for this complex limb malformation was mapped to chromosome 17p13.3.Genetic counselingThe condition is transmitted as an autosomal recessivetrait.Visit the Orphanet disease page for more resources.

MalaCards based summary : Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction, also known as syndactyly type 9, is related to polydactyly and chromosome 2q35 duplication syndrome. An important gene associated with Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction is BHLHA9 (Basic Helix-Loop-Helix Family Member A9). Affiliated tissues include bone and skin, and related phenotypes are finger syndactyly and short palm

OMIM : 58 Mesoaxial synostotic syndactyly with phalangeal reduction (MSSD) represents a distinctive combination of clinical features that includes mesoaxial osseous synostosis at a metacarpal level, reduction of one or more phalanges, hypoplasia of distal phalanges of preaxial and postaxial digits, clinodactyly of fifth fingers, and preaxial fusion of toes (Malik et al., 2014). (609432)

UniProtKB/Swiss-Prot : 76 Syndactyly, mesoaxial synostotic, with phalangeal reduction: An autosomal recessive, non-syndromic digit anomaly characterized by mesoaxial osseous synostosis at a metacarpal level, reduction of one or more phalanges, hypoplasia of distal phalanges of preaxial and postaxial digits, clinodactyly of fifth fingers, and preaxial fusion of toes.

Related Diseases for Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction

Diseases related to Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 polydactyly 10.5
2 chromosome 2q35 duplication syndrome 10.3

Symptoms & Phenotypes for Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction

Human phenotypes related to Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction:

60 33 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 finger syndactyly 60 33 hallmark (90%) Very frequent (99-80%) HP:0006101
2 short palm 60 33 hallmark (90%) Very frequent (99-80%) HP:0004279
3 clinodactyly of the 5th finger 60 33 hallmark (90%) Very frequent (99-80%) HP:0004209
4 short hallux 60 33 hallmark (90%) Very frequent (99-80%) HP:0010109
5 symphalangism affecting the phalanges of the hand 60 33 hallmark (90%) Very frequent (99-80%) HP:0009773
6 2-3 toe syndactyly 60 33 hallmark (90%) Very frequent (99-80%) HP:0004691
7 short thumb 60 33 hallmark (90%) Very frequent (99-80%) HP:0009778
8 metacarpal synostosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0009701
9 aplasia/hypoplasia of the middle phalanges of the hand 60 33 hallmark (90%) Very frequent (99-80%) HP:0009843
10 synostosis of carpal bones 60 33 frequent (33%) Frequent (79-30%) HP:0005048
11 aplasia/hypoplasia of the hallux 60 33 Very frequent (99-80%) HP:0008362
12 toe syndactyly 60 Very frequent (99-80%)
13 aplasia/hypoplasia of the thumb 33 HP:0009601
14 single transverse palmar crease 33 HP:0000954
15 3-4 finger syndactyly 33 HP:0006097
16 aplasia/hypoplasia of the middle phalanx of the 2nd finger 33 HP:0009568
17 aplasia/hypoplasia of the middle phalanx of the 5th finger 33 HP:0009161
18 proximal/middle symphalangism of 5th finger 33 HP:0009177
19 symphalangism affecting the phalanges of the hallux 33 HP:0010064

Symptoms via clinical synopsis from OMIM:

58
Skeletal Hands:
fifth finger clinodactyly
bilateral transverse palmar creases
four fingers on each hand
complete syndactyly/synostosis of 3rd-4th fingers
aplasia/hypoplasia of thumbs
more
Skin Nails Hair Skin:
distorted triradii of palmar skin
decreased flexion creases

Skeletal Feet:
aplasia/hypoplasia of halluces
complete or partial syndactyly
hypoplasia of distal and middle phalanges
hallucal symphalangism

Skin Nails Hair Nails:
hypoplastic nails of some affected fingers and toes

Clinical features from OMIM:

609432

Drugs & Therapeutics for Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction

Search Clinical Trials , NIH Clinical Center for Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction

Genetic Tests for Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction

Genetic tests related to Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction:

# Genetic test Affiliating Genes
1 Syndactyly Type 9 30 BHLHA9

Anatomical Context for Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction

MalaCards organs/tissues related to Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction:

42
Bone, Skin

Publications for Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction

Articles related to Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction:

# Title Authors Year
1
Mesoaxial synostotic syndactyly with phalangeal reduction (MSSD): syndactyly type IX. ( 29230504 )
2018
2
Response to: "Letter to the editor: Mesoaxial synostotic syndactyly with phalangeal reduction (MSSD): syndactyly type IX". ( 29911248 )
2018

Variations for Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction

UniProtKB/Swiss-Prot genetic disease variations for Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction:

76
# Symbol AA change Variation ID SNP ID
1 BHLHA9 p.Asn71Asp VAR_073333 rs672601337
2 BHLHA9 p.Arg73Pro VAR_073334 rs672601338
3 BHLHA9 p.Arg75Leu VAR_073335 rs672601339

ClinVar genetic disease variations for Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 BHLHA9 NM_001164405.1(BHLHA9): c.211A> G (p.Asn71Asp) single nucleotide variant Pathogenic rs672601337 GRCh38 Chromosome 17, 1270774: 1270774
2 BHLHA9 NM_001164405.1(BHLHA9): c.211A> G (p.Asn71Asp) single nucleotide variant Pathogenic rs672601337 GRCh37 Chromosome 17, 1174068: 1174068
3 BHLHA9 NM_001164405.1(BHLHA9): c.218G> C (p.Arg73Pro) single nucleotide variant Pathogenic rs672601338 GRCh38 Chromosome 17, 1270781: 1270781
4 BHLHA9 NM_001164405.1(BHLHA9): c.218G> C (p.Arg73Pro) single nucleotide variant Pathogenic rs672601338 GRCh37 Chromosome 17, 1174075: 1174075
5 BHLHA9 NM_001164405.1(BHLHA9): c.224G> T (p.Arg75Leu) single nucleotide variant Pathogenic rs672601339 GRCh38 Chromosome 17, 1270787: 1270787
6 BHLHA9 NM_001164405.1(BHLHA9): c.224G> T (p.Arg75Leu) single nucleotide variant Pathogenic rs672601339 GRCh37 Chromosome 17, 1174081: 1174081

Expression for Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction

Search GEO for disease gene expression data for Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction.

Pathways for Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction

GO Terms for Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction

Sources for Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
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45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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